IthaID: 2231
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | -α3.7 (type III) | HGVS Name: | NG_000006.1:g.34570_38381del |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34570 |
| Size: | 3.812 kb |
| Fusion involves: | α2, α1, α3.7 hybrid |
Other details
| Type of Mutation: | Fusion |
|---|---|
| Ethnic Origin: | Melanesian, Polynesian, Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Higgs DR, Hill AV, Bowden DK, Weatherall DJ, Clegg JB, Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution., Nucleic Acids Res. , 12(18), 6965-77, 1984
- Hill AV, Bowden DK, Trent RJ, Higgs DR, Oppenheimer SJ, Thein SL, Mickleson KN, Weatherall DJ, Clegg JB, Melanesians and Polynesians share a unique alpha-thalassemia mutation., Am. J. Hum. Genet. , 37(3), 571-80, 1985
- Williams TN, Maitland K, Ganczakowski M, Peto TE, Clegg JB, Weatherall DJ, Bowden DK, Red blood cell phenotypes in the alpha + thalassaemias from early childhood to maturity., Br. J. Haematol. , 95(2), 266-72, 1996
- Charoenwijitkul T, Singha K, Fucharoen G, Sanchaisuriya K, Thepphitak P, Wintachai P, Karnpean R, Fucharoen S, Molecular characteristics of α-thalassemia (3.7 kb deletion) in Southeast Asia: Molecular subtypes, haplotypic heterogeneity, multiple founder effects and laboratory diagnostics., Clin Biochem, 71(0), 31-37, 2019
Created on 2013-10-03 11:14:48,
Last reviewed on 2021-06-17 15:15:39 (Show full history)
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